Notes in e. Collagen Disorders

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Status	Last Update	Fields
Published	07/28/2024	Mutations that change {{c1::glycine}} into another amino acid cause collagen disease because the collagen helix cannot wind tightly as a result
Published	07/28/2024	Mutations at the {{c1::3'}} end of DNA sequences are {{c2::more}} likely to cause collagen diseases because the triple helix winds up from t…
Published	07/28/2024	Type I collagen contains:
Published	07/28/2024	The type I collagen alpha 1 chain is encoded for by the gene {{c1::COL1A1}}
Published	07/28/2024	The type I collagen alpha 2 chain is encoded for by the gene {{c1::COL1A2}}
Published	07/28/2024	{{c1::Type I}} collagen is the most abundant in bones and connective tissue
Published	07/28/2024	COL1A1 and COL1A2 mutations cause most {{c1::Osteogenesis Imperfecta}} syndromes
Published	07/28/2024	OI {{c1::Type I}} is the most common type, and is inherited {{c2::autosomal dominant}}
Published	07/28/2024	How is type 1 collagen affected in patients with OI Type 1?
Published	07/28/2024	In what order do the types of OI increase from mild to severe?
Published	07/28/2024	grey/blue sclera and opalescent dentin are characteristic symptoms of {{c1::type I Osteogenesis Imperfecta}}
Published	07/28/2024	How is type I collagen affected by type II OI?
Published	07/28/2024	OI Type II disorders are typically inherited {{c1::de novo autosomal dominant}}
Published	07/28/2024	Stickler syndrome is a disease associated with defects in collagen type {{c1::II}} that has a variety of {{c1::ocular}} manifestations such as my…
Published	07/28/2024	{{c2::Classical}} Ehlers-Danlos syndrome is associated with molecular defects in collagen type {{c1::V}}
Published	07/28/2024	{{c2::Vascular}} Ehlers-Danlos syndrome is associated with molecular defects in collagen type {{c1::III}}
Published	07/28/2024	Classical EDS is inherrited via {{c1::autosomal dominant}} patterns
Published	07/28/2024	Soft, smooth skin with hyperelasticity, atrophic scars, and easy brusing are common symptoms of {{c1::classical Ehlers Danlos Syndrome}}
Published	07/28/2024	Type III collagen is composed of?
Published	07/28/2024	For collagen homotrimers (such as type III collagen), a defect on a single polypeptide chain can result in what proportion of the homotrimers being de…
Published	07/28/2024	{{c1::Vascular}} EDS is associated with areterial/intestinal/uterine fragility or rupture, bruising, translucent skin
Published	07/28/2024	{{c1::Hypermobility}} EDS is currently of unknown collagen etiology, however is associated with extreme pain and presents obstacles for clinician mana…
Published	07/28/2024	How can OI be an autosomal dominant condition when there is no family history of OI (5-8%) of families without OI who have multiple children with OI
Published	07/28/2024	Why is there such variation in phenotype in Osteogenesis Imperfecta
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